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Page 1
Genetic polymorphisms and idiopathic generalized epilepsies.
Lucarini N, Verrotti A, Napolioni V, Bosco G, Curatolo P. Lucarini N, et al. Among authors: verrotti a. Pediatr Neurol. 2007 Sep;37(3):157-64. doi: 10.1016/j.pediatrneurol.2007.06.001. Pediatr Neurol. 2007. PMID: 17765802 Review.
Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome).
Tambasco N, Paoletti FP, Prato G, Mancardi MM, Prontera P, Giordano L, Grosso S, Romeo A, Pinto F, Savasta S, Peruzzi C, Romoli M, Striano P, Verrotti A, Belcastro V; Società Italiana Neurologia Pediatrica (SINP) Collaborative Network. Tambasco N, et al. Among authors: verrotti a. Eur J Paediatr Neurol. 2018 Nov;22(6):1081-1086. doi: 10.1016/j.ejpn.2018.08.004. Epub 2018 Aug 29. Eur J Paediatr Neurol. 2018. PMID: 30195408
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.
Accogli A, Wiegand G, Scala M, Cerminara C, Iacomino M, Riva A, Carlini B, Camerota L, Belcastro V, Prontera P, Fernández-Jaén A, Bebek N, Scudieri P, Baldassari S, Salpietro V, Novelli G, De Luca C, von Stülpnagel C, Kluger F, Kluger GJ, Wohlrab GC, Ramantani G, Lewis-Smith D, Thomas RH, Lai M, Verrotti A, Striano S, Depienne C, Minetti C, Benfenati F, Brancati F, Zara F, Striano P. Accogli A, et al. Among authors: verrotti a. Neurology. 2021 Aug 10;97(6):e577-e586. doi: 10.1212/WNL.0000000000012298. Epub 2021 Jun 2. Neurology. 2021. PMID: 34078716 Free PMC article.
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
Rooney K, Levy MA, Haghshenas S, Kerkhof J, Rogaia D, Tedesco MG, Imperatore V, Mencarelli A, Squeo GM, Di Venere E, Di Cara G, Verrotti A, Merla G, Tedder ML, DuPont BR, Sadikovic B, Prontera P. Rooney K, et al. Among authors: verrotti a. Int J Mol Sci. 2021 Aug 10;22(16):8611. doi: 10.3390/ijms22168611. Int J Mol Sci. 2021. PMID: 34445317 Free PMC article.
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Scala M, Drouot N, MacLennan SC, Wessels MW, Krygier M, Pavinato L, Telegrafi A, de Man SA, van Slegtenhorst M, Iacomino M, Madia F, Scudieri P, Uva P, Giacomini T, Nobile G, Mancardi MM, Balagura G, Galloni GB, Verrotti A, Umair M, Khan A, Liebelt J, Schmidts M, Langer T, Brusco A, Lipska-Ziętkiewicz BS, Saris JJ, Charlet-Berguerand N, Zara F, Striano P, Piton A. Scala M, et al. Among authors: verrotti a. Hum Mutat. 2022 Sep;43(9):1299-1313. doi: 10.1002/humu.24414. Epub 2022 Jun 8. Hum Mutat. 2022. PMID: 35607920 Free PMC article.
696 results